ClinVar Miner

List of variants in gene GLI2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.457+70G>A rs11681136 0.93205
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NM_001374353.1(GLI2):c.1633-17C>T rs78949549 0.01801
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001374353.1(GLI2):c.4402C>G (p.Pro1468Ala) rs145958673 0.00009
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133 0.00003
NM_001374353.1(GLI2):c.2284C>T (p.Pro762Ser) rs773216992 0.00002
NM_001374353.1(GLI2):c.1157C>T (p.Pro386Leu) rs757467621 0.00001
NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp) rs1015526827
NM_001374353.1(GLI2):c.2353del (p.Leu785fs) rs1683081860
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe) rs1553479775

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.